Boston, Mass. — Researchers from the U.S. and India have begun a new collaborative project to identify genetic risk factors and traits related to glaucoma, a leading cause of blindness worldwide. Funded by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), and India’s Department of Biotechnology (DBT), the researchers’ goal is to help develop effective screening, prevention, and treatment strategies for glaucoma. Grants from the two agencies stem from a bilateral initiative, the U.S.-India Collaborative Vision Research Program, designed to advance knowledge in the biological mechanisms of ocular disease.

“This initiative harnesses resources from the U.S. and India for research that will benefit glaucoma patients around the world,” said Belinda Seto, Ph.D., NEI deputy director.

Glaucoma is a group of diseases that damages the eye’s optic nerve, the bundle of nerve fibers connecting the eye to the brain. Glaucoma affects about 2.7 million Americans and 60 million people worldwide.

NEI awarded its grant to Massachusetts Eye and Ear (MEE), an affiliate of Harvard Medical School (HMS). DBT has provided funding to the Vision Research Foundation, part of Sankara Nethralaya, a specialty institution in India for ophthalmic care. The combined grants will total more than $1.3 million over three years, pending availability of funds.

Combining research efforts

The primary focus of the research team in India will be on clinical evaluations, collecting samples for genetic testing, and looking for risk factors in patients with glaucoma. The study will include roughly 400 people from 30 families in southern India who share close ancestry.

“We will conduct detailed eye examinations for these large families in India,” said Ronnie George, M.D., senior consultant in the Department of Glaucoma at the Vision Research Foundation. The exams include a vision test and quantitative measurements of roughly 40 traits, including ocular pressure, dimensions of the eye and cornea, and size of the optic nerve. “We will also collect blood samples and prepare them for DNA analysis.”

Researchers in the U.S. will focus on state-of-the-art genetic analyses to identify risk factors for the clinical traits associated with glaucoma.

“We are planning whole genome sequencing of this unique participant pool,” said Janey Wiggs, M.D., Ph.D., associate director of the Ocular Genomics Institute at MEE/HMS (in photo). “This study should give us a great opportunity to identify specific genes and gene variants underlying these quantitative traits.”

The combined research will build on a pilot study (link is external), which was also a collaboration between NEI and DBT, and similar NEI-funded research. The researchers emphasize these projects are excellent examples of how important collaboration and exchange of ideas are for scientific research.

“A unique population combined with cutting-edge technology has the potential to improve our understanding of glaucoma,” said George. “It would not be possible for us to do this individually.”

PheWAS: a new opportunity to make discoveries

In addition to building a database of gene variants and traits among families with glaucoma, the research team plans to complete a first-ever glaucoma phenome-wide association study (PheWAS).

Wiggs explained that a typical genome-wide association study (link is external) compares the DNA of a group of people with a particular disease to a group without disease to find the genetic associations. “A PheWAS turns it around where the association of one genetic variant with a variety of different clinical traits is evaluated,” she said. Usually researchers need large sample sizes, in the thousands of participants, but the pilot study showed (link is external) that this type of family-based study can work with smaller sample sizes and still provide meaningful data.

Currently there is no cure for glaucoma, and vision lost from the disease cannot be restored. “The only treatment for glaucoma is to lower intraocular pressure, which is the only modifiable risk factor at the moment,” explained Wiggs. “The more we know about the genes that contribute to glaucoma, the better our chances in identifying therapeutic targets.”

The NEI grant number is R01EY027129.

Information for this release was provided by the National Eye Institute. For more information on the collaborative grant, please visit the full news release from the institute.

About the National Eye Institute (NEI)
NEI leads the federal government’s research on the visual system and eye diseases. NEI supports basic and clinical science programs to develop sight-saving treatments and address special needs of people with vision loss. For more information, visit https://www.nei.nih.gov.

About the National Institutes of Health (NIH)
NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov/.

About Massachusetts Eye and Ear
Mass. Eye and Ear clinicians and scientists are driven by a mission to find cures for blindness, deafness and diseases of the head and neck. Now united with Schepens Eye Research Institute, Mass. Eye and Ear is the world's largest vision and hearing research center, developing new treatments and cures through discovery and innovation. Mass. Eye and Ear is a Harvard Medical School teaching hospital and trains future medical leaders in ophthalmology and otolaryngology, through residency as well as clinical and research fellowships. Internationally acclaimed since its founding in 1824, Mass. Eye and Ear employs full-time, board-certified physicians who offer high-quality and affordable specialty care that ranges from the routine to the very complex. In the 2015–2016 “Best Hospitals Survey,” U.S. News & World Report ranked Mass. Eye and Ear #1 in the nation for ear, nose and throat care and #1 in the Northeast for eye care. For more information about life-changing care and research, or to learn how you can help, please visit MassEyeAndEar.org.

About Harvard Medical School Department of Ophthalmology
The Harvard Medical School (HMS) Department of Ophthalmology (eye.hms.harvard.edu) is one of the leading and largest academic departments of ophthalmology in the nation. More than 350 full-time faculty and trainees work at nine HMS affiliate institutions, including Massachusetts Eye and Ear, Massachusetts General Hospital, Brigham and Women’s Hospital, Boston Children’s Hospital, Beth Israel Deaconess Medical Center, Joslin Diabetes Center/Beetham Eye Institute, Veterans Affairs Boston Healthcare System, VA Maine Healthcare System, and Cambridge Health Alliance. Formally established in 1871, the department has been built upon a strong and rich foundation in medical education, research, and clinical care. Through the years, faculty and alumni have profoundly influenced ophthalmic science, medicine, and literature—helping to transform the field of ophthalmology from a branch of surgery into an independent medical specialty at the forefront of science.